Results 61 to 70 of about 18,928 (258)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Cerebrospinal fluid biomarkers and genetic factors associated with normal pressure hydrocephalus and Alzheimer’s disease: a narrative review

Egyptian Journal of Medical Human Genetics, 2022
Background Normal pressure hydrocephalus is a neurologic disease leading to enlargement of ventricles which is presented with gait and balance disturbance, cognitive decline, and urinary incontinence.
Fatemeh Afrashteh, Roya Ghafoury, Mostafa Almasi-Doghaee   +2 more
doaj   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Three-Dimensional Trunk and Lower Limbs Characteristics during Gait in Patients with Huntington's Disease

Frontiers in Neuroscience, 2017
Objective: A number of studies on gait disturbances have been conducted, however, no clear pattern of gait disorders was described. The aim of the study was to characterize the gait pattern in HD patients by conducting analysis of mean angular movement ...
Elzbieta Mirek, Magdalena Filip, Wiesław Chwała, Krzysztof Banaszkiewicz, Monika Rudzinska-Bar, Jadwiga Szymura, Szymon Pasiut, Andrzej Szczudlik   +7 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Step Timing Change over Time During Wearable Exoskeleton-Assisted Gait Training: A Cross-Sectional Study

Biomimetics
This study aimed to investigate the timing of foot-off and initial contact at the end of the first walking training session with a Wearable Power-Assist Locomotor (WPAL) in novice healthy users.
Tomohito Ito, Soichiro Koyama, Koki Tan, Shigeo Tanabe   +3 more
doaj   +1 more source

Establishment of a gait-based clinical diagnostic model for Parkinson’s disease [PDF]

精准医学杂志
Objective To establish a gait-based clinical diagnostic model for Parkinson’s disease (PD), and to investigate its clinical diagnostic value. Methods A total of 112 patients with PD who attended Department of Neurology in our hospital from December 2022 ...
MA Wenqi, XUE Li, LI Han, XIE Anmu
doaj   +1 more source

MECHANICAL GAIT TRAINING IN NEUROLOGICAL DISORDERS: A REVIEW OF EVIDENCES

International Journal of Physiotherapy and Research, 2015
Robotic technologies are becoming more prevalent for treating neurological conditions in clinical settings. We conducted a literature search of original articles to identify all studies that examined the use of robotic devices for restoring walking function in adults with neurological disorders.
Iyyappan Manickavasagam, Poongundran Paranthaman, Jagatheesan Alagesan, Vandana J. Rathod   +3 more
openaire   +1 more source